CEBPA
Acute myeloid leukemia, familial
AD
DDX41
Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to
AD
DKC1
Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenita
XL
EFL1*
Shwachman-Diamond syndrome
EPCAM
Diarrhea 5, with tufting enteropathy, congenital, Colorectal cancer, hereditary nonpolyposis
AD/AR
ETV6
Thrombocytopenia 5
AD
FANCA
Fanconi anemia
AR
GATA2
Myelodysplastic syndrome, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, Immunodeficiency
AD
HAVCR2
HRAS
Costello syndrome, Congenital myopathy with excess of muscle spindles
AD
IKZF1
Immunodeficiency, common variable, 13
AD
KRAS*
Noonan syndrome, Cardiofaciocutaneous syndrome
AD
MAP2K1
Cardiofaciocutaneous syndrome
AD
MAP2K2
Cardiofaciocutaneous syndrome
AD
MLH1
Muir-Torre syndrome, Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis
AD/AR
MSH2
Muir-Torre syndrome, Endometrial cancer, Colorectal cancer, hereditary nonpolyposis,, Mismatch repair cancer syndrome
AD/AR
MSH6
Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis
AD/AR
NBN
Breast cancer, Nijmegen breakage syndrome
AD/AR
NF1*
Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndrome
AD
NRAS
Noonan syndrome
AD
PAX5
Pre-B cell acute lymphoblastic leukemia
AD
PMS2*
Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis
AD/AR
PTPN11
Noonan syndrome, Metachondromatosis
AD
RIT1
Noonan syndrome
AD
RUNX1
Platelet disorder, familial, with associated myeloid malignancy
AD
